苯丙酮尿症突变基因分析和产前诊断

FREQUENCY OF FIVE POINT MUTATIONS OF PHENYLALANINE HYDROXYLASE AND PRENATAL GENE DIAGNOSIS OF PHENYLKETONURIA

应用多重等位基因特异ＰＣＲ方法检测分析了３０个苯丙酮尿症家系的５种苯丙氨酸羟化酶基因点突变：外显子７（Ａｒｇ２４３Ｇｌｎ），外显子１２（Ａｒｇ４１３Ｐｒｏ），外显子３（Ａｒｇ１１１Ｔｅｒｍ），外显于１１（Ｔｙｒ３５６Ｔｅｒｍ）和外显子６（Ｔｙｒ２０４Ｃｙｓ）．结果表明，这五种突变占ＰＫＵ基因的４６．６％，其中最常见的突变为前两种，分别占２３．３％和１０．０％。完成了１例ＰＫＵ风险胎儿的产前诊断。

The five known mutant alleles of the phenylalanine hydroxylase(PAH)gene were analyzed in 30 phenylketonuria(PKU)families from north China by multiplex allele-specific PCR(MASPCR).The results showed that these five point mutations accounted for 46.6% of all PKU genes.The two most frequent mutations were Arg243Gln and Arg413Pro.Their frequencies were 23.3% and 10.0% respectively.One prenatal gene diagnosis was performed.The mutations were identified in both parents,the fetus was a heterozygote carrying Arg243Gln.